Rare diseases · Sign or symptom
Hypertonia
HP:0001276
What it means
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
Rare diseases that can present with this168
Very common80–99%
35- 8p inverted duplication/deletion syndrome
- Acetazolamide-responsive myotonia
- Aicardi-Goutières syndrome
- Autosomal dominant spastic ataxia type 1
- Brain dopamine-serotonin vesicular transport disease
- Cataract-ataxia-deafness syndrome
- Cocaine embryofetopathy
- COFS syndrome
- Cornelia de Lange syndrome
- Crisponi syndrome
- Desmosterolosis
- Distal monosomy 7q36 syndrome
- Early-onset autosomal dominant Alzheimer disease
- Early-onset generalized limb-onset dystonia
- Griscelli syndrome type 1
- Hereditary hyperekplexia
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Locked-in syndrome
- Manganese poisoning
- Menkes disease
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic primordial dwarfism, Montreal type
- Myotonia permanens
- Neuhauser-Eichner-Opitz syndrome
- Oculocerebral hypopigmentation syndrome, Preus type
- Otofaciocervical syndrome
- Oxoglutaric aciduria
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Schwartz-Jampel syndrome
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Severe X-linked intellectual disability, Gustavson type
- Symmetrical thalamic calcifications
- Trisomy 18 syndrome
- Weaver syndrome
- X-linked spasticity-intellectual disability-epilepsy syndrome
Common30–79%
44- Acute bilirubin encephalopathy
- Aicardi syndrome
- ALG11-CDG
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Autosomal dominant spastic paraplegia type 31
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive spastic paraplegia type 63
- Canavan disease
- Childhood-onset spasticity with hyperglycinemia
- Chronic bilirubin encephalopathy
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Classic glucose transporter type 1 deficiency syndrome
- Coffin-Lowry syndrome
- Congenital unilateral hypoplasia of depressor anguli oris
- Cortical blindness-intellectual disability-polydactyly syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Distal duplication 15q syndrome
- Edinburgh malformation syndrome
- Encephalocraniocutaneous lipomatosis
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Familial acute necrotizing encephalopathy
- Familial colorectal cancer Type X
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Hoyeraal-Hreidarsson syndrome
- Hydroxykynureninuria
- Hyperekplexia-epilepsy syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Infantile dystonia-parkinsonism
- Isolated cerebellar agenesis
- Juvenile amyotrophic lateral sclerosis
- Keppen-Lubinsky syndrome
- Lynch syndrome
- Marinesco-Sjögren syndrome
- MEHMO syndrome
- Microlissencephaly
- Microlissencephaly-micromelia syndrome
- Mitochondrial DNA-associated Leigh syndrome
- Monosomy 9p syndrome
- Mucopolysaccharidosis type 3
- Muscle-eye-brain disease
- Neuronal intranuclear inclusion disease
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- Pontocerebellar hypoplasia type 10
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hypertonicity · Increased muscle tone · Muscle hypertonia · Spasticity and rigidity of muscles
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.